Varaico: Literature-Extracted Genetic Variants

Gene:ACADS
Variant:p.L93I
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ACADS

NM_000017.4:p.L93I

Associated Papers

Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.

Wang T et al.

Frontiers in Genetics, 2019

Compound heterozygous mutations of ACADS gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review.

An SJ et al.

Korean Journal of Pediatrics, 2016

Novel and Recurrent ACADS Mutations and Clinical Manifestations Observed in Korean Patients with Short-chain Acyl-coenzyme a Dehydrogenase Deficiency.

Kim YM et al.

Annals of Clinical and Laboratory Science, 2016

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